ClinVar Miner

List of variants reported as pathogenic for electroclinical syndrome by OMIM

Included ClinVar conditions (113):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu) rs121918334 0.00003
NM_001040142.2(SCN2A):c.562C>T (p.Arg188Trp) rs121917748 0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_021927.3(GUF1):c.1825G>T (p.Ala609Ser) rs879255631 0.00001
NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter) rs786205162 0.00001
CHD2, ARG1644LYSFSTER22
CHD2, GLU1412GLYFSTER64
CHD2, GLY491VALFSTER13
CHD2, TRP548ARG
NC_000002.12:g.96197067AAAAT[(n)]/AAATG[(n)]
NC_000005.10:g.10356348_10356407TTTTA[(9_?)]TTTCA[(791_1035)]
NC_000020.10:g.(8094049_8094072)_(8580261_8580284)del
NG_054747.1:g.(19392_19426)TTTTA[(7_?)]TTTCA[(n)]
NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn) rs886037938
NM_000814.6(GABRB3):c.545A>T (p.Tyr182Phe) rs886037939
NM_000814.6(GABRB3):c.580C>T (p.Arg194Ter) rs1555368345
NM_000814.6(GABRB3):c.745C>A (p.Gln249Lys) rs886037940
NM_000814.6(GABRB3):c.860C>T (p.Thr287Ile) rs1595440448
NM_000814.6(GABRB3):c.913G>A (p.Ala305Thr) rs886037941
NM_000834.5(GRIN2B):c.1844A>T (p.Asn615Ile) rs672601377
NM_000834.5(GRIN2B):c.1853T>G (p.Val618Gly) rs672601376
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.3007C>A (p.Leu1003Ile) rs121917754
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.3988C>T (p.Leu1330Phe) rs121917749
NM_001040142.2(SCN2A):c.4687C>G (p.Leu1563Val) rs121917750
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln) rs121917752
NM_001040142.2(SCN2A):c.754A>G (p.Met252Val) rs387906687
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del) rs1858669268
NM_001130438.3(SPTAN1):c.6605_6607del (p.Gln2202del) rs398122865
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys) rs1859859572
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1123-2A>G rs397518469
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met) rs397518468
NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg) rs397518450
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys) rs397518447
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val) rs397514557
NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val) rs397518471
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter) rs397518472
NM_001134407.3(GRIN2A):c.2829C>G (p.Tyr943Ter) rs397518467
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr) rs397518466
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter) rs387906637
NM_001191061.2(SLC25A22):c.328G>C (p.Gly110Arg) rs587777243
NM_001191061.2(SLC25A22):c.706G>T (p.Gly236Trp) rs121918335
NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His) rs267607103
NM_001199107.2(TBC1D24):c.751T>C (p.Phe251Leu) rs267607104
NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter) rs398123000
NM_001271.4(CHD2):c.1809+1del rs397514739
NM_001271.4(CHD2):c.1810-2A>C rs398122999
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter) rs397514740
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) rs398122998
NM_001271.4(CHD2):c.628G>T (p.Glu210Ter) rs1567133726
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.183del (p.Met63fs) rs62643608
NM_001323289.2(CDKL5):c.2047-1G>A rs267608650
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.404-1G>T rs267608474
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser) rs61749700
NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro) rs267606715
NM_001323289.2(CDKL5):c.863C>T (p.Thr288Ile) rs267606713
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001323289.2(CDKL5):c.902_903dup (p.Leu302fs) rs267608546
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys) rs879255652
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_004171.4(SLC1A2):c.244G>A (p.Gly82Arg) rs886037942
NM_004171.4(SLC1A2):c.244G>C (p.Gly82Arg) rs886037942
NM_004171.4(SLC1A2):c.254T>C (p.Leu85Pro) rs886037943
NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg) rs781379291
NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala) rs587777862
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004408.4(DNM1):c.529G>C (p.Ala177Pro) rs587777860
NM_004408.4(DNM1):c.618G>C (p.Lys206Asn) rs587777861
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) rs760270633
NM_004408.4(DNM1):c.865A>T (p.Ile289Phe) rs1554774401
NM_004519.4(KCNQ3):c.925T>C (p.Trp309Arg) rs118192249
NM_004519.4(KCNQ3):c.929G>T (p.Gly310Val) rs118192250
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) rs118192251
NM_005076.5(CNTN2):c.1699G>T (p.Glu567Ter) rs867618155
NM_005076.5(CNTN2):c.2874_2875del (p.Pro959fs)
NM_005076.5(CNTN2):c.504del (p.Trp168fs) rs398122387
NM_006279.5(ST3GAL3):c.660C>A (p.Tyr220Ter) rs201204481
NM_006279.5(ST3GAL3):c.958G>C (p.Ala320Pro) rs1557563410
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) rs104894743
NM_139058.3(ARX):c.1449-816_*460del
NM_139058.3(ARX):c.1465del (p.Ala489fs) rs587783191
NM_139058.3(ARX):c.1604T>A (p.Leu535Gln) rs387906715
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup) rs1365611175
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) rs387906493
NM_139058.3(ARX):c.435_461dup (p.Ala147_Ala155dup) rs1556056125
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter) rs398122854
NM_139318.5(KCNH5):c.1388T>C (p.Ile463Thr)
NM_139318.5(KCNH5):c.1402A>C (p.Thr468Pro)
NM_139318.5(KCNH5):c.1412T>C (p.Phe471Ser)
NM_139318.5(KCNH5):c.2020-4A>G
NM_139318.5(KCNH5):c.980G>A (p.Arg327His) rs587777164
NM_139318.5(KCNH5):c.998G>A (p.Arg333His) rs1383017734
NM_145239.3(PRRT2):c.291del (p.Asn98fs) rs730882073
NM_145239.3(PRRT2):c.629del (p.Pro210fs) rs730882067
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.650del (p.Arg217fs) rs730882124
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter) rs397514579
NM_145239.3(PRRT2):c.879+5G>A rs1596893185
NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn) rs267607198
NM_172107.4(KCNQ2):c.1680_1684dup (p.Tyr562fs) rs118192231
NM_172107.4(KCNQ2):c.1930del (p.Tyr644fs) rs118192241
NM_172107.4(KCNQ2):c.2127del (p.Val710fs) rs118192244
NM_172107.4(KCNQ2):c.584_593delinsA (p.Ser195_Arg198delinsTer) rs118192197
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp) rs28939684
NM_172107.4(KCNQ2):c.851A>G (p.Tyr284Cys) rs28939683
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr) rs74315390
NM_173354.5(SIK1):c.1039G>T (p.Glu347Ter) rs786205160
NM_173354.5(SIK1):c.1840C>T (p.Gln614Ter) rs786205161
NM_173354.5(SIK1):c.1906G>A (p.Gly636Ser) rs786205163
NM_173354.5(SIK1):c.859C>A (p.Pro287Thr) rs786205159
NM_198904.4(GABRG2):c.1192C>T (p.Gln398Ter) rs121909674
NM_198904.4(GABRG2):c.245G>A (p.Arg82Gln) rs121909673
NM_198904.4(GABRG2):c.529C>G (p.Arg177Gly) rs267606837
NM_198904.4(GABRG2):c.769+2T>G rs1561645243
NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln) rs397514737
NM_198904.4(GABRG2):c.983A>T (p.Lys328Met) rs121909672
RAPGEF2, 5-BP INS, TTTCA(n) REPEAT EXPANSION
SAMD12, 5-BP INS, TTTCA(n) REPEAT EXPANSION, IVS4
TNRC6A, 5-BP INS, TTTCA(n) REPEAT EXPANSION

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